rs1410996

Prospective cohort study of 472 elderly French participants (mean age 81.9 years) from the ALIENOR study examining incident reticular pseudodrusen (RPD). Annual incidence was 2.047% with estimated 5-year cumulative incidence of 9.73%. Risk factors identified in multivariate analysis included ARMS2 rs10490924 (HR 3.36, p=0.0009), LIPC rs10468017 (HR 2.65, p=0.0029), and thinner choroidal thickness (HR 1.06, p=0.0085). Liposoluble statin medication was protective (HR 0.18, p=0.0448).

The EuroCLOT study identified genetic variants associated with coagulation factors in healthy volunteers and examined their association with ischemic stroke using a three-stage design (2,100 twins in discovery, 4,200 cases in stage 2, and 8,900 cases/55,000 controls in stage 3). The lead ABO locus SNP rs505922 showed significant association with ischemic stroke (OR=1.07, 95% CI=1.03-1.11, p=0.0006), with association specifically in cardioembolic and large-vessel stroke but not small-vessel disease. Two additional ABO SNPs (rs643434 and rs651007) also showed significant association.

This case-control study of 1844 unrelated white individuals examined the association between 8 SNPs in 5 genes (CFH, HTRA1/LOC387715, C2, CFB, C3) and advanced age-related macular degeneration (AMD), including geographic atrophy and choroidal neovascularization. All genetic variants showed strong associations with AMD, with odds ratios ranging from 0.44 (C2 rs9332739, protective) to 10.99 (HTRA1/LOC387715 rs10490924 TT). A combined predictive model including genetic variants and environmental factors (smoking, age, BMI) achieved 78.8% discrimination accuracy with ROC curve AUC of 0.82.

Comprehensive review evaluating SNPs as genetic predictors of choroidal neovascularization (CNV) response to photodynamic therapy with verteporfin (PDT-V). The paper examines pharmacogenetic correlations for thrombo-coagulative pathway variants (MTHFR rs1801133, F5 rs6025, F2 rs1799963, F13A1 rs5985), complement/inflammatory variants (CFH, HTRA1, CRP, ARMS2), and VEGFA variants (rs699947, rs2146323), concluding that specific SNPs show clinical plausibility as markers to optimize PDT-V efficacy and guide therapeutic approaches in neovascular macular degeneration.